Incidental Mutation 'IGL02550:Def6'
ID298026
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Def6
Ensembl Gene ENSMUSG00000002257
Gene Namedifferentially expressed in FDCP 6
SynonymsIBP, SLAT, 6430538D02Rik, IRF-4-binding protein, 2410003F05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02550
Quality Score
Status
Chromosome17
Chromosomal Location28207778-28228608 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 28228261 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 622 (E622V)
Ref Sequence ENSEMBL: ENSMUSP00000002327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002320] [ENSMUST00000002327]
Predicted Effect probably benign
Transcript: ENSMUST00000002320
SMART Domains Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
ZnF_C4 70 140 1.58e-33 SMART
Blast:HOLI 183 208 1e-6 BLAST
HOLI 250 409 1.36e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000002327
AA Change: E622V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: E622V

DomainStartEndE-ValueType
low complexity region 145 166 N/A INTRINSIC
PH 217 314 3.87e-20 SMART
coiled coil region 318 551 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166744
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutants spontaneously develop systemic autoimmunity. Females primarily are affected, displaying hypergammaglobulinemia, accumulation of effector/memory T cells and IgG+ B cells, and production of autoantibodies [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109I03Rik T G 15: 74,880,755 H24P probably damaging Het
Acadl A G 1: 66,845,166 probably null Het
Acer3 G A 7: 98,223,978 T171I probably benign Het
Acsm2 C T 7: 119,573,284 P117S probably damaging Het
Anxa2 A G 9: 69,467,306 S22G probably benign Het
Arrb2 T C 11: 70,436,870 I120T probably damaging Het
Atp11a G T 8: 12,816,997 K141N possibly damaging Het
Casd1 T C 6: 4,642,009 V762A probably benign Het
Ccdc61 A T 7: 18,893,302 S48T probably benign Het
Cntn2 T C 1: 132,529,063 M82V probably null Het
Cobll1 A G 2: 65,107,863 S359P probably damaging Het
Ctnnbl1 C A 2: 157,884,135 D465E probably benign Het
Dmgdh T C 13: 93,717,575 Y678H probably damaging Het
Dock9 A T 14: 121,698,312 M1K probably null Het
Esyt1 T C 10: 128,522,093 K216E probably damaging Het
Fhod3 A G 18: 25,022,960 D545G probably benign Het
Galnt12 A T 4: 47,104,126 D128V possibly damaging Het
Gm1110 C T 9: 26,881,834 V549I probably benign Het
Gm1966 A T 7: 106,601,639 noncoding transcript Het
Gm7361 A G 5: 26,261,122 I161V possibly damaging Het
Gsn T C 2: 35,282,607 probably benign Het
Il16 T A 7: 83,674,496 Q282L possibly damaging Het
Il3ra A G 14: 14,348,055 D67G probably benign Het
Insrr T C 3: 87,804,498 L515P probably damaging Het
Jhy A G 9: 40,917,170 F480S probably benign Het
Klc4 C A 17: 46,636,910 probably null Het
Klhl12 G T 1: 134,467,705 C135F possibly damaging Het
Mboat7 G T 7: 3,683,906 probably null Het
Myo1f A G 17: 33,580,150 probably benign Het
Myo1f G A 17: 33,588,142 D522N probably damaging Het
Nbea C A 3: 56,019,414 M789I probably damaging Het
Ncapd2 T C 6: 125,177,447 D602G probably benign Het
Ncaph2 A T 15: 89,369,861 K344* probably null Het
Nek2 A G 1: 191,822,259 Y70C probably damaging Het
Olfr1277 T A 2: 111,270,004 D121V probably damaging Het
Olfr1281 T C 2: 111,328,500 L27P probably damaging Het
Olfr31 T C 14: 14,328,423 L104P possibly damaging Het
Olfr857 C A 9: 19,713,047 F73L possibly damaging Het
Olfr955 T A 9: 39,470,546 Y60F probably benign Het
Olfr992 G A 2: 85,399,822 A237V probably damaging Het
Plcb3 T A 19: 6,960,176 K625* probably null Het
Plrg1 T C 3: 83,061,123 probably null Het
Ptpn12 A G 5: 20,998,139 V547A probably benign Het
Ralgapb A G 2: 158,448,411 D748G probably damaging Het
Rcbtb2 A G 14: 73,162,019 E41G probably damaging Het
Rela G T 19: 5,641,506 R236L possibly damaging Het
Rps6kc1 A G 1: 190,871,862 S188P probably damaging Het
Sipa1l1 A T 12: 82,440,949 K1666* probably null Het
Slco1a1 C T 6: 141,943,465 M40I probably benign Het
Smarca4 C A 9: 21,686,122 P1391Q probably benign Het
Stra6 A G 9: 58,150,083 N392S possibly damaging Het
Syt4 A G 18: 31,444,193 I36T probably damaging Het
Tgfbr2 A T 9: 116,110,129 M235K probably benign Het
Tmem87a T A 2: 120,374,485 probably null Het
Tmf1 T C 6: 97,158,561 D918G probably benign Het
Tnfaip2 A G 12: 111,446,101 Y312C probably damaging Het
Usp47 C T 7: 112,104,354 R1178C probably damaging Het
Vmn2r95 T A 17: 18,451,732 I577N probably damaging Het
Vps13b T C 15: 35,572,096 V953A probably benign Het
Wasl A G 6: 24,633,884 F127S probably damaging Het
Wdr1 C T 5: 38,540,863 V192I probably damaging Het
Wnt9a C T 11: 59,330,918 T214I probably damaging Het
Xpo5 A G 17: 46,229,329 D693G probably benign Het
Zan A G 5: 137,387,039 L5044P unknown Het
Zhx3 T C 2: 160,781,296 N317S probably damaging Het
Other mutations in Def6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Def6 APN 17 28219740 splice site probably benign
IGL01619:Def6 APN 17 28207864 missense probably damaging 1.00
IGL01737:Def6 APN 17 28223727 missense possibly damaging 0.94
R0013:Def6 UTSW 17 28217092 missense probably damaging 1.00
R0335:Def6 UTSW 17 28228069 missense possibly damaging 0.83
R0357:Def6 UTSW 17 28223935 missense probably damaging 1.00
R0373:Def6 UTSW 17 28220180 missense probably damaging 0.96
R1161:Def6 UTSW 17 28217619 missense probably benign 0.00
R1310:Def6 UTSW 17 28217619 missense probably benign 0.00
R1470:Def6 UTSW 17 28225982 missense possibly damaging 0.67
R1470:Def6 UTSW 17 28225982 missense possibly damaging 0.67
R1636:Def6 UTSW 17 28223918 missense possibly damaging 0.95
R1778:Def6 UTSW 17 28220186 missense probably benign 0.02
R2432:Def6 UTSW 17 28228069 missense probably benign 0.03
R3881:Def6 UTSW 17 28220215 missense probably damaging 1.00
R4402:Def6 UTSW 17 28219976 missense probably damaging 0.99
R4589:Def6 UTSW 17 28228147 missense probably benign
R4683:Def6 UTSW 17 28217635 missense probably damaging 0.99
R5704:Def6 UTSW 17 28228226 missense probably benign
R6481:Def6 UTSW 17 28226163 missense probably benign 0.00
R6805:Def6 UTSW 17 28223717 missense probably damaging 1.00
R7029:Def6 UTSW 17 28225969 missense probably benign 0.05
R7863:Def6 UTSW 17 28227867 missense possibly damaging 0.62
R8229:Def6 UTSW 17 28217755 missense probably damaging 1.00
Posted On2015-04-16